Incidental Mutation 'IGL02234:Cyp4f13'
ID285863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f13
Ensembl Gene ENSMUSG00000024055
Gene Namecytochrome P450, family 4, subfamily f, polypeptide 13
Synonyms0610030I10Rik, P450 CYP4F13, leukotriene B4 omega hydroxylase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #IGL02234
Quality Score
Status
Chromosome17
Chromosomal Location32924688-32947402 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to G at 32924774 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075253] [ENSMUST00000137222] [ENSMUST00000139353]
Predicted Effect probably benign
Transcript: ENSMUST00000075253
SMART Domains Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:p450 52 514 1.9e-130 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123653
Predicted Effect probably benign
Transcript: ENSMUST00000137222
SMART Domains Protein: ENSMUSP00000123495
Gene: ENSMUSG00000024055

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
SCOP:d1e9xa_ 48 115 1e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139353
SMART Domains Protein: ENSMUSP00000123282
Gene: ENSMUSG00000024055

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:p450 60 405 7.8e-108 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,668,220 T1010M possibly damaging Het
Atr A G 9: 95,947,250 probably benign Het
Cdc42bpa A T 1: 180,151,191 K1585* probably null Het
Cdh19 T C 1: 110,932,226 D175G probably damaging Het
Celsr3 G T 9: 108,829,960 R1214L probably benign Het
Chchd1 T C 14: 20,703,410 probably null Het
Col4a1 T C 8: 11,216,713 K1165E probably damaging Het
Col6a4 A G 9: 106,013,432 F1888L possibly damaging Het
Csmd3 C A 15: 47,948,116 R1193L probably damaging Het
Cyp2d11 T A 15: 82,390,139 H347L probably benign Het
Dopey2 T C 16: 93,752,151 V193A probably benign Het
Dus4l T C 12: 31,641,496 probably benign Het
Epc1 G A 18: 6,439,938 H79Y probably damaging Het
Gm12588 T A 11: 121,908,325 Het
Gpr107 T C 2: 31,177,833 Y222H probably damaging Het
Gzmn C T 14: 56,169,007 probably null Het
Helq A G 5: 100,796,470 I258T possibly damaging Het
Hsp90ab1 T C 17: 45,569,735 K137R probably benign Het
Htr1f T A 16: 64,926,067 R287S probably damaging Het
Il20ra A C 10: 19,749,270 D99A probably damaging Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Mboat7 A G 7: 3,691,351 Y34H probably damaging Het
Mid2 T C X: 140,763,669 S646P probably damaging Het
Msh6 T C 17: 87,986,801 S995P probably damaging Het
Mtmr10 A G 7: 64,299,602 I108V probably benign Het
Muc6 G A 7: 141,640,575 T1395M probably benign Het
Nlrp4f A G 13: 65,194,488 F448L probably damaging Het
Odc1 C A 12: 17,548,620 D220E possibly damaging Het
Olfr1080 T C 2: 86,553,266 N286S probably damaging Het
Pax7 A G 4: 139,828,590 I189T probably damaging Het
Pcdh12 T A 18: 38,283,535 H179L probably damaging Het
Pcdh15 A T 10: 74,631,862 M1836L probably benign Het
Psmc5 T C 11: 106,263,010 V390A probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rpgrip1 A G 14: 52,131,309 probably benign Het
Sema5a C T 15: 32,679,172 R866C probably damaging Het
Stox2 A G 8: 47,193,612 F271S probably damaging Het
Tpgs2 T C 18: 25,149,244 probably null Het
Ttll8 T A 15: 88,914,049 I828F possibly damaging Het
Vmn1r7 T C 6: 57,024,552 Y241C probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Cyp4f13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Cyp4f13 APN 17 32941164 missense probably benign 0.00
IGL01835:Cyp4f13 APN 17 32930614 missense probably benign 0.39
IGL02437:Cyp4f13 APN 17 32930608 missense probably benign 0.12
IGL02465:Cyp4f13 APN 17 32929136 critical splice donor site probably null
IGL02604:Cyp4f13 APN 17 32932421 missense probably benign 0.01
IGL02934:Cyp4f13 APN 17 32929871 missense probably damaging 1.00
IGL03177:Cyp4f13 APN 17 32946914 missense possibly damaging 0.88
R0117:Cyp4f13 UTSW 17 32930606 missense probably damaging 0.98
R0138:Cyp4f13 UTSW 17 32941106 missense possibly damaging 0.63
R0220:Cyp4f13 UTSW 17 32929502 missense probably damaging 1.00
R0243:Cyp4f13 UTSW 17 32924969 splice site probably benign
R0357:Cyp4f13 UTSW 17 32932651 nonsense probably null
R1078:Cyp4f13 UTSW 17 32925568 missense probably damaging 1.00
R1757:Cyp4f13 UTSW 17 32929958 missense probably damaging 1.00
R1990:Cyp4f13 UTSW 17 32925568 missense probably damaging 1.00
R2351:Cyp4f13 UTSW 17 32925596 missense probably benign 0.01
R4704:Cyp4f13 UTSW 17 32925735 missense probably damaging 1.00
R4865:Cyp4f13 UTSW 17 32925704 missense probably damaging 1.00
R5004:Cyp4f13 UTSW 17 32925786 missense probably benign 0.39
R5310:Cyp4f13 UTSW 17 32925821 missense probably damaging 1.00
R5574:Cyp4f13 UTSW 17 32929205 missense probably benign 0.39
R5996:Cyp4f13 UTSW 17 32929473 missense possibly damaging 0.87
R6190:Cyp4f13 UTSW 17 32929873 missense probably damaging 1.00
Posted On2015-04-16